Variant report

Variant	nsv549207
Chromosome Location	chr1:217333272-217455903
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:32)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:217342403..217343954-chr1:217344008..217345934,2	MCF-7	breast:
2	chr1:217422531..217425535-chr1:217425715..217429730,4	MCF-7	breast:
3	chr1:217444231..217445843-chr1:217449162..217450800,2	MCF-7	breast:
4	chr1:217439739..217442978-chr1:217443096..217445764,3	MCF-7	breast:
5	chr1:217447573..217449167-chr1:217455947..217457680,2	MCF-7	breast:
6	chr1:217398384..217401178-chr1:217402478..217405024,2	MCF-7	breast:
7	chr1:217414322..217416803-chr1:217420667..217423030,2	K562	blood:
8	chr1:217439739..217442978-chr1:217443096..217445764,3	MCF-7	breast:
9	chr1:217394115..217396814-chr1:217420972..217423299,2	MCF-7	breast:
10	chr1:217422170..217425033-chr1:217426334..217427951,2	K562	blood:
11	chr1:217394115..217396814-chr1:217420972..217423299,2	MCF-7	breast:
12	chr1:217444231..217445843-chr1:217449162..217450800,2	MCF-7	breast:
13	chr1:217414322..217416803-chr1:217420667..217423030,2	K562	blood:
14	chr1:217422531..217425535-chr1:217425715..217429730,4	MCF-7	breast:
15	chr1:217344276..217346970-chr1:217349596..217352751,3	K562	blood:
16	chr1:217432660..217434768-chr1:217434998..217437708,2	K562	blood:
17	chr1:217432652..217435690-chr1:217435841..217438930,3	MCF-7	breast:
18	chr1:217359070..217361285-chr1:217363724..217365876,2	K562	blood:
19	chr1:217413884..217416566-chr21:33031783..33034561,2	MCF-7	breast:
20	chr1:217342403..217343954-chr1:217344008..217345934,2	MCF-7	breast:
21	chr1:217345470..217348133-chr1:217351251..217353992,2	K562	blood:
22	chr1:217432660..217434768-chr1:217434998..217437708,2	K562	blood:
23	chr1:217422170..217425033-chr1:217426334..217427951,2	K562	blood:
24	chr1:217359070..217361285-chr1:217363724..217365876,2	K562	blood:
25	chr1:217398384..217401178-chr1:217402478..217405024,2	MCF-7	breast:
26	chr1:217391403..217392065-chr17:54832414..54832922,2	MCF-7	breast:
27	chr1:217345470..217348133-chr1:217351251..217353992,2	K562	blood:
28	chr1:217432652..217435690-chr1:217435841..217438930,3	MCF-7	breast:
29	chr1:217348357..217350433-chr1:217466912..217469307,2	MCF-7	breast:
30	chr1:217409270..217409986-chr5:127479273..127479788,2	MCF-7	breast:
31	chr1:217418281..217419132-chr15:91474949..91475748,2	MCF-7	breast:
32	chr1:217344276..217346970-chr1:217349596..217352751,3	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ESRRG-1	chr1:217389904-217389996	ucscGeneNc_uc001hlp_2
2	lnc-ESRRG-1	chr1:217413435-217413716	ucscGeneNc_uc001hlp_2
3	lnc-SPATA17-7	chr1:217444699-217444906	expReg_chr1_23531_+
4	lnc-ESRRG-1	chr1:217396085-217396164	ucscGeneNc_uc001hlp_2

No data

Variant related genes	Relation type
ENSG00000142168	chromatin interactions
ENSG00000184508	chromatin interactions
ENSG00000234509	chromatin interactions

Extended variants
information (count: 2087 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:2087 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60367966	chr1:217334036-217334037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370173112	chr1:217334059-217334060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35406063	chr1:217334080-217334081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566099430	chr1:217334099-217334100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191069102	chr1:217334101-217334102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536633447	chr1:217334120-217334121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577065271	chr1:217334180-217334181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140262949	chr1:217334220-217334221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545587384	chr1:217334245-217334246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182864667	chr1:217334261-217334262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17696298	chr1:217334278-217334279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs576090052	chr1:217334331-217334332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77344441	chr1:217334371-217334372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541361438	chr1:217334397-217334398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145698190	chr1:217334398-217334399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560525328	chr1:217334431-217334432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187466004	chr1:217334451-217334452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376568765	chr1:217334473-217334474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370874832	chr1:217334485-217334486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529687599	chr1:217334487-217334488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533343248	chr1:217334499-217334500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550144860	chr1:217334535-217334536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563783527	chr1:217334537-217334538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192694355	chr1:217334540-217334541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529338926	chr1:217334613-217334614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549470434	chr1:217334655-217334656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566036160	chr1:217334690-217334691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555045876	chr1:217334732-217334733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563406513	chr1:217334744-217334745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183380316	chr1:217334780-217334781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12121561	chr1:217334796-217334797	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs11117780	chr1:217334798-217334799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs368396927	chr1:217334832-217334833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11117781	chr1:217334839-217334840	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs187699850	chr1:217334840-217334841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145396504	chr1:217334867-217334868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555048075	chr1:217334871-217334872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553866079	chr1:217334893-217334894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114343356	chr1:217334910-217334911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540668269	chr1:217334936-217334937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548552664	chr1:217334992-217334993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564427319	chr1:217335002-217335003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567658016	chr1:217335033-217335034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141590282	chr1:217335108-217335109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1502351	chr1:217335150-217335151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs116792810	chr1:217335161-217335162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563694438	chr1:217335212-217335213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529496295	chr1:217335228-217335229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549159278	chr1:217335239-217335240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192155190	chr1:217335360-217335361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	14699429	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217334000-217342400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:217346200-217346400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:217346600-217347400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:217347200-217347400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:217352000-217352200	Enhancers	Fetal Heart	heart
6	chr1:217352400-217354000	Weak transcription	Fetal Heart	heart
7	chr1:217354000-217359000	Enhancers	Fetal Heart	heart
8	chr1:217357000-217357600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:217357800-217358400	Enhancers	Adipose Nuclei	Adipose
10	chr1:217357800-217359000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:217358200-217358600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr1:217358400-217358800	Enhancers	Colon Smooth Muscle	Colon
13	chr1:217358600-217359000	Enhancers	Stomach Smooth Muscle	stomach
14	chr1:217358600-217361200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:217359000-217360600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:217359000-217360800	Weak transcription	Fetal Heart	heart
17	chr1:217360600-217362200	Enhancers	Stomach Smooth Muscle	stomach
18	chr1:217360800-217362200	Enhancers	Colon Smooth Muscle	Colon
19	chr1:217360800-217362200	Enhancers	Fetal Stomach	stomach
20	chr1:217360800-217362400	Enhancers	Fetal Heart	heart
21	chr1:217361200-217362000	Enhancers	Fetal Lung	lung
22	chr1:217361200-217362200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr1:217365000-217365200	Enhancers	Fetal Intestine Large	intestine
24	chr1:217365400-217366000	Weak transcription	Fetal Intestine Large	intestine
25	chr1:217366000-217367000	Enhancers	Fetal Intestine Large	intestine
26	chr1:217366000-217367200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:217366400-217367000	Enhancers	NHEK	skin
28	chr1:217384800-217386400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:217398400-217399000	Enhancers	Adipose Nuclei	Adipose
30	chr1:217401200-217401800	Enhancers	Aorta	Aorta
31	chr1:217401400-217402200	Enhancers	Fetal Lung	lung
32	chr1:217401400-217402800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:217402800-217405800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:217405800-217406000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:217406000-217406800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:217406800-217407000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:217409800-217410800	Enhancers	Fetal Heart	heart
38	chr1:217410000-217411400	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr1:217410400-217411000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:217417400-217418800	Enhancers	Aorta	Aorta
41	chr1:217418200-217418600	Enhancers	Fetal Brain Male	brain
42	chr1:217418200-217419000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:217418200-217419000	Enhancers	Adipose Nuclei	Adipose
44	chr1:217423800-217425800	Enhancers	Fetal Intestine Large	intestine
45	chr1:217424800-217426200	Enhancers	Fetal Intestine Small	intestine
46	chr1:217425800-217426400	Weak transcription	Fetal Intestine Large	intestine
47	chr1:217426400-217426600	Enhancers	Fetal Intestine Large	intestine
48	chr1:217434600-217434800	Bivalent Enhancer	Esophagus	oesophagus
49	chr1:217440200-217440400	Active TSS	Pancreas	Pancrea
50	chr1:217441200-217441600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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